Results 41 -
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363
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Brain disorder
- ... gene have been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development, problems with movement, and ... disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 ...
- ... gene have been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development, problems with movement, and ... disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 ...
- ... gene has been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development, problems with movement, and ... disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 ...
- ... in people with CASK-related intellectual disability. This disorder affects brain development and has two main forms: a severe ... Citation on PubMed Moog U, Kutsche K. CASK Disorders. 2013 Nov ... X-linked brain malformation phenotype with microcephaly and hypoplasia of the ...
- ... in people with RNAse T2-deficient leukoencephalopathy. This disorder involves brain abnormalities leading to neurological problems that become apparent ...
- ... PubMed Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. doi: 10.1146/annurev.neuro.30.051606.094232. Citation on PubMed ... an increasingly diagnosed genetic disorder. Hum Genomics. 2010 Apr;4(4):250-62. ...
- ... encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet. 2006 Jul;38(7):752- ...
- ... eye, or heart (NEDBEH). This condition primarily affects brain development, causing intellectual disability, delayed development, or autism spectrum disorder, which is a condition that affects communication and ...
- ... protein functions related to the development of the brain, but the specific connection between the mutations and the disorder is unclear. More About This Health Condition MedlinePlus ...
- ... diabetes (described below).Multiple sclerosis is a chronic disorder of the brain and spinal cord (central nervous system) that causes muscle weakness, poor coordination, numbness, and a variety of other health ... of developing this disorder. One of these variations, HLA-DQB1*06:02, ...